A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1941n152



Internal ID22817644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:90081865..90098202hg38UCSC Ensembl
chr12:90475642..90491979hg19UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg3816338
hg1916338
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3245754, nsv3233226
SamplesNA19239, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv1941n152
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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